Search on: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE 
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Descriptor English:   Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 
Descriptor Spanish:   Displasia Ectodérmica Hipohidrótica Autosómica Recesiva 
Descriptor Portuguese:   Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva 
Synonyms English:   Anhidridic Ectodermal Dysplasia, Autosomal Recessive
Anhidrotic Ectodermal Dysplasia, Autosomal Recessive
Anhydridic Ectodermal Dysplasia, Autosomal Recessive
Autosomal Recessive Anhidrotic Ectodermal Dysplasia
Autosomal Recessive Anhydrotic Ectodermal Dysplasia
Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive
Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive  
Tree Number:   C16.131.077.350.348
C16.131.831.350.348
C16.320.850.250.348
C17.800.804.350.348
C17.800.827.250.348
Definition English:   An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. 
See Related English:   Edar Receptor
Edar-Associated Death Domain Protein
 
History Note English:   2007 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   52141 
Unique Identifier:   D053360 

Occurrence in VHL: 		 

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